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Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

✍ Scribed by Benigna von Brederlow; Hanno Bolz; Andreas Janecke; Alicia La O Cabrera; Günther Rudolph; Birgit Lorenz; Eberhard Schwinger; Andreas Gal

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
307 KB
Volume
19
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Albert de la Chapelle

Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most severe form and shows extensive allelic and non-allelic heterogeneity. At least six USH1 loci exist (USH1A-F), and four of the underlying genes have been identified. Recently, a novel gene, cadherin 23 (CDH23), was shown to be mutated in USH1D. We performed mutation screening by single strand conformation polymorphism (SSCP) analysis and direct sequencing on 33 USH1 patients previously excluded for USH1B and USH1C. On eight disease alleles of four patients, four different mutations were identified, three of them novel (c.6933delT, c.5712G®A, and IVS45-9G®A). Exon trapping experiments were performed with two mutations. In the case of a c.5712G®A transition of the last base of exon 42, that is an apparently synonymous mutation, skipping of exon 42 was observed. By the mutation IVS45-9G®A, a novel splice acceptor site was created and the insertion of 7 intronic bp was observed. Two mutations, IVS45-9G®A and the previously described IVS51+5G®A, were each found in more than one patient. Haplotype analysis by SNPs within CDH23 suggests common ancestors for each of the mutations. Among the total of 52 USH1 cases studied by us, CDH23 mutations account for about 10% of all disease alleles. Our results further suggest that in patients with a typical USH1D phenotype, a significant portion of CDH23 mutations leads to premature termination of translation or loss of numerous amino acid residues, with a high frequency of changes causing aberrant splicing of CDH23 mRNA.

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